Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151187290A>G , CM000669.2:g.151187290A>G | GRCh38 |
| NC_000007.13:g.150884377A>G , CM000669.1:g.150884377A>G | GRCh37 |
| NC_000007.12:g.150515310A>G | NCBI36 |
| NG_017016.1:g.5543T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000275838.5:c.-160T>C | ENSP00000275838.1:n.-160T>C | |
| ENST00000377867.7:c.271+162T>C | ENSP00000367098.3:n.271+162T>C | |
| ENST00000415615.1:c.*85T>C | ENSP00000410871.1:n.*85T>C | |
| NM_001142459.1:c.-160T>C | NP_001135931.2:n.-160T>C | |
| NM_001142460.1:c.-160T>C | NP_001135932.2:n.-160T>C | |
| NM_080871.3:c.271+162T>C | NP_543147.2:n.271+162T>C | |
| NM_080871.4:c.271+162T>C | NP_543147.2:n.271+162T>C |